Frontal bossing, and Constipation

Diseases related with Frontal bossing and Constipation

In the following list you will find some of the most common rare diseases related to Frontal bossing and Constipation that can help you solving undiagnosed cases.

Top matches:

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Other less relevant matches:

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Top 5 symptoms//phenotypes associated to Frontal bossing and Constipation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Constipation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Downslanted palpebral fissures Hypertelorism Failure to thrive Clinodactyly Thin upper lip vermilion Short stature Anteverted nares Epicanthus Prominent nose Motor delay Feeding difficulties Low-set ears Ptosis Hypoplasia of the corpus callosum Encephalopathy Posteriorly rotated ears Brachycephaly High forehead Bulbous nose Spasticity Small hand Tapered finger Sleep disturbance Retrognathia Open mouth Joint hypermobility Micrognathia Short nose Finger clinodactyly Clinodactyly of the 5th finger Brachydactyly Growth delay Short foot Coarse facial features Choreoathetosis High palate Stereotypy Facial asymmetry Anxiety Microcephaly Kyphoscoliosis Abnormality of the skeletal system Wide nasal bridge Scoliosis Behavioral abnormality Osteopenia Macrocephaly Fever Hyperactivity Abnormal facial shape

Rare Symptoms - Less than 30% cases

Dysphagia Depressed nasal bridge Muscular hypotonia of the trunk Short philtrum Broad forehead Abnormality of the hand Cryptorchidism Triangular face Generalized muscle weakness Esotropia Protruding ear Severe muscular hypotonia Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Myopia Large forehead Optic atrophy Synophrys Vomiting Hip dysplasia Gait ataxia Dental crowding Exotropia Gastroesophageal reflux Aggressive behavior Pectus excavatum Midface retrusion Wide mouth Thick lower lip vermilion Visual impairment Flexion contracture Downturned corners of mouth Clonus Widely spaced teeth Nystagmus Cerebellar atrophy Hearing impairment Hyperreflexia Ataxia Gliosis Intrauterine growth retardation Muscular hypotonia Dystonia Cerebral atrophy Absent speech Highly arched eyebrow EEG abnormality Visual loss Areflexia Dementia Malar flattening Autism Cerebral cortical atrophy Hypothyroidism Intellectual disability, severe High anterior hairline Mental deterioration Cerebellar gliosis Abnormality of metabolism/homeostasis Microtia Feeding difficulties in infancy Postnatal growth retardation Autistic behavior Developmental regression Peripheral neuropathy Hypermetropia Astigmatism Thick eyebrow Short palm Everted lower lip vermilion Arachnoid cyst Focal-onset seizure Febrile seizures Epileptic encephalopathy Hypoplasia of penis Hypothalamic hypothyroidism Paralysis Autoamputation of digits Parkinsonism Keratitis Neurodegeneration Poor suck Decreased nerve conduction velocity Sensorimotor neuropathy Tetraplegia Progressive neurologic deterioration Unsteady gait Tetraparesis Generalized myoclonic seizures Tics Periventricular leukomalacia Spastic tetraplegia Abnormality of extrapyramidal motor function Infantile spasms Diaphragmatic eventration Autoamputation Urinary retention Cerebellar cortical atrophy Spinal deformities Neuronal loss in central nervous system EMG: chronic denervation signs Abnormal pyramidal sign Degeneration of the lateral corticospinal tracts Morphological abnormality of the pyramidal tract Abnormality of the cerebral white matter Corpus callosum atrophy Lewy bodies Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Epiphora Low anterior hairline Panic attack Generalized hirsutism Short distal phalanx of finger Atrial septal defect Long philtrum Hernia Spastic diplegia Conductive hearing impairment Low-set, posteriorly rotated ears Sparse hair Attention deficit hyperactivity disorder Thick vermilion border Cleft palate Hammertoe Impaired vibratory sensation Emotional lability Slurred speech High, narrow palate Drooling Spastic paraparesis Single transverse palmar crease Hoarse voice Talipes equinovarus Hyperplasia of midface Spastic gait Abnormality of the thumb Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Dysuria Hyperextensible hand joints Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Narrow jaw Suicidal ideation Morphea Delayed eruption of teeth Broad nasal tip Short chin Hemifacial hypoplasia Babinski sign Intellectual disability, mild Skeletal muscle atrophy Dysarthria Cognitive impairment Muscle weakness Abnormality of lower lip Knee clonus Macrodontia Difficulty walking Short attention span Polyphagia Cupped ear Self-injurious behavior Short middle phalanx of finger Language impairment Focal impaired awareness seizure Sandal gap Absence seizures Pes cavus Deep philtrum Hallucinations Dandy-Walker malformation Progressive muscle weakness Lower limb spasticity Psychosis Overgrowth Specific learning disability Abnormal cerebellum morphology Distal amyotrophy Dysmetria Small nail Hydronephrosis Sparse scalp hair Wormian bones Narrow palpebral fissure Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Camptodactyly Paroxysmal bursts of laughter Recurrent candida infections Cerebral white matter hypoplasia Prominent nasal bridge Intellectual disability, profound Brain atrophy Dyskinesia Inability to walk Smooth philtrum Poor speech Severe global developmental delay Joint laxity Failure to thrive in infancy Short neck Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Cachexia Global brain atrophy Renal potassium wasting Lumbar hyperlordosis Long fingers Disproportionate tall stature Overlapping toe Optic nerve hypoplasia Narrow palate Pointed chin Clumsiness Mitral regurgitation Renal agenesis Hip contracture Pectus carinatum Hyperlordosis Pes planus Profound static encephalopathy Appendicular hypotonia Generalized tonic seizures Profound global developmental delay Facial hypotonia Increased urinary potassium Hypochloremia Small face Arrhythmia Dehydration Premature birth Muscle cramps Paresthesia Small for gestational age Macrotia Polyhydramnios Acidosis Diarrhea Ventricular arrhythmia Pain Underdeveloped superior crus of antihelix Frontal upsweep of hair Anteriorly placed anus Relative macrocephaly Abnormality of the pinna Neonatal hypotonia Abnormal heart morphology Nephrocalcinosis Hypokalemia Hyposthenuria Chondrocalcinosis Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Hypocalciuria Increased circulating renin level Impaired platelet aggregation Metabolic alkalosis Tetany Alkalosis Hypercalciuria Abnormally large globe Renal salt wasting Hypomagnesemia Hyperaldosteronism Hyperthyroidism Hyperkalemia Polyuria Polydipsia Maternal diabetes Long hallux Narrow nasal tip Recurrent bacterial skin infections Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Eczematoid dermatitis Hypospadias T-cell lymphoma Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Red hair Increased IgE level Hypertonia Cerebellar hypoplasia Verrucae Supernumerary nipple Lower limb hypertonia Tethered cord Chordee Delayed CNS myelination Central hypotonia Syringomyelia Spinal canal stenosis Narrow nasal bridge Hypoplastic toenails Delayed myelination Patent foramen ovale Bilateral ptosis Oculomotor apraxia Abnormal vertebral morphology Short thumb Hypertrichosis Blue sclerae Apraxia Recurrent sinopulmonary infections Hemihypertrophy Hyperplasia of the maxilla Immunodeficiency Skin rash Craniosynostosis Erythema Deeply set eye Mandibular prognathia Osteoporosis Pneumonia Recurrent infections Abnormality of the dentition Pruritus Severe expressive language delay Laryngotracheomalacia Hypoplastic helices Mild myopia Ureteral stenosis Expressive language delay Thoracic kyphoscoliosis Vertebral clefting Cough Wide nose Chronic mucocutaneous candidiasis Eosinophilia Recurrent bronchitis Atopic dermatitis Recurrent sinusitis Bronchitis Squamous cell carcinoma Chronic otitis media Urticaria Recurrent skin infections Recurrent bacterial infections Recurrent fractures Hemivertebrae Skin ulcer Sinusitis Inflammatory abnormality of the skin Eczema Otitis media Lymphoma Asthma Testicular torsion


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Joint hypermobility, related diseases and genetic alterations